PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia
PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia
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DOI：
10.1016/j.leukres.2006.02.004
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发表时间：
2006-09-01
影响因子：
2.7
通讯作者：
Kojma, Seiji
中科院分区：
文献类型：
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作者：
Yamamoto, Tomoko;Isomura, Mariko;Kojma, Seiji
PTPN11是编码蛋白酪氨酸磷酸酶SHP-2的基因，在调节细胞内信号传导中起重要作用。PTPN11的种系突变首次在Noonan综合征中观察到，而体细胞突变在hernatology髓系恶性肿瘤中被发现。最近，PTPN11突变在急性淋巴细胞白血病（ALL）患儿中有报道。在本研究中，我们调查了95名日本ALL患儿样本中PTPN11、RAS和FLT3突变的流行情况。我们在6例B前体ALL患儿中观察到PTPN11外显子3和8错义突变。一名患有唐氏综合症和ALL的患者有PTPN11突变。我们还在10例患者中发现了RAS突变，在1例患者中发现了FLT3内部串联重复（FLT3/ITD）。没有患者同时发生PTPN11和RAS突变，而有一名患者同时发生PTPN11和FLT3突变。这些数据表明，PTPN11突变可能在部分ALL患儿，特别是B前体ALL的白血病发生中起重要作用。(c) 2006 Elsevier Ltd.版权所有。
PTPN11, the gene which encodes protein tyrosine phosphatase SHP-2, plays an important role in regulating intracellular signaling. Germline mutations in PTPN11 were first observed in Noonan syndrome, while somatic mutations were identified in hernatological myeloid malignancies. Recently, PTPN11 mutations have been reported in children with acute lymphoblastic leukemia (ALL). In the present study, we investigated the prevalence of mutations in PTPN11, RAS and FLT3 in samples from 95 Japanese children with ALL. We observed exon 3 and 8 missense mutations of PTPN11 in 6 children with B precursor ALL. One patient with Down syndrome and ALL had PTPN11 mutation. We also identified RAS mutations in ten patients and FLT3 internal tandem duplication (FLT3/ITD) in one patient. None of the patients had simultaneous mutations in PTPN11 and RAS, while one patient had both PTPN11 and FLT3 mutations. These data suggest that PTPN11 mutation may play an important role for leukemogenesis in a proportion of children with ALL, particularly B precursor ALL. (c) 2006 Elsevier Ltd. All rights reserved.